Kido Jun, Matsumoto Shirou, Momosaki Ken, Sakamoto Rieko, Mitsubuchi Hiroshi, Endo Fumio, Nakamura Kimitoshi
Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
Pediatr Transplant. 2017 Sep;21(6). doi: 10.1111/petr.12987. Epub 2017 Jun 12.
UCDs are among the most common inherited metabolic diseases in Japan. We investigated the clinical manifestations, treatment, and prognoses of 177 patients with UCDs who were evaluated and treated from January 1999 to March 2009 in Japan, using a questionnaire survey. Among these 177 patients, 42 (seven with carbamoyl phosphate synthetase 1 deficiency, 27 with ornithine transcarbamylase deficiency, seven with argininosuccinate synthetase deficiency, and one with arginase 1 deficiency) underwent living-donor LT. Although this study was retrospective and included limited neurodevelopmental information before and after LT, we evaluated whether LT could improve neurodevelopmental outcomes in patients with UCDs. The neurodevelopmental outcomes of patients with a MAC of <300 μmol/L at the time of onset were not significantly different between the LT and non-LT groups (P=.222). LT may have prevented further neurodevelopmental complications in children with MAC ≥300 μmol/L (P=.008) compared with non-transplant management. Therefore, Liver transplant should be considered in patients with UCD with a MAC of ≥300 μmol/L at the time of disease onset.
尿素循环障碍（UCDs）是日本最常见的遗传性代谢疾病之一。我们通过问卷调查，对1999年1月至2009年3月在日本接受评估和治疗的177例UCDs患者的临床表现、治疗及预后进行了调查。在这177例患者中，42例（7例为氨甲酰磷酸合成酶1缺乏症、27例为鸟氨酸转氨甲酰酶缺乏症、7例为精氨琥珀酸合成酶缺乏症、1例为精氨酸酶1缺乏症）接受了活体供肝肝移植（LT）。尽管本研究为回顾性研究，且包含的LT前后神经发育信息有限，但我们评估了LT是否能改善UCDs患者的神经发育结局。发病时血氨浓度（MAC）<300 μmol/L的患者，LT组和非LT组的神经发育结局无显著差异（P = 0.222）。与非移植治疗相比，LT可能预防了MAC≥300 μmol/L儿童的进一步神经发育并发症（P = 0.008）。因此，对于发病时MAC≥300 μmol/L的UCD患者，应考虑进行肝移植。
